human genetic disease, any of the diseases and disorders that are caused by mutations in one or more genes.

With the increasing ability to control infectious and nutritional diseases in developed countries, there has come the realization that genetic diseases are a major cause of disability, death, and human tragedy. Rare, indeed, is the family that is entirely free of any known genetic disorder. Many thousands of different genetic disorders with defined clinical symptoms have been identified. Of the 3 to 6 percent of newborns with a recognized birth defect, at least half involve a predominantly genetic contribution. Furthermore, genetic defects ... (100 of 12,497 words)